Canonical Allele Identifier: CA416489618
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.20974946C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648453C>A , CM000663.2:g.20648453C>A GRCh38
NC_000001.10:g.20974946C>A , CM000663.1:g.20974946C>A GRCh37
NC_000001.9:g.20847533C>A NCBI36
NG_008164.1:g.19999C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1124-52C>A (PINK1) MANE Select ENSP00000364204.3:n.1124-52C>A
ENST00000321556.4:c.1124-52C>A (PINK1) ENSP00000364204.3:n.1124-52C>A
ENST00000400490.2:n.217-52C>A (PINK1)
ENST00000492302.1:n.2212-52C>A (PINK1)
NM_032409.2:c.1124-52C>A (PINK1) NP_115785.1:n.1124-52C>A
NR_046507.1:n.3741G>T (PINK1-AS)
NM_032409.3:c.1124-52C>A (PINK1) MANE Select NP_115785.1:n.1124-52C>A
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